Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
METAP1D_chr2_171994953_172087430	172042561	GTGCACAT others(179): Show GTGCACATATATACATATATGTGTGTATGTGTACATGTGCACATATATAC ATATATGTGTGTATGTGTACACATATACATATGTGTGTATGTGTATATGT GTACACATATACGTGTGTATGTGTATATGTGTACACATATACGTGTGTGT GTGTATATGTGTACACATATACGTGTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0152 a0001c0001t0004g0152	1	354	0.0028	-186	c.41- others(17): Show c.41-18934_41-18749del		METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
MGAM_chr7_141990879_142111747	142043727	ATATAATA others(179): Show ATATAATATATACATTATATACACATACGACATATAATATATACATTATA TACACATACGACATATAATATATACATTATATACACATACGACGTATAAT ATATACATTATATACACATACGACGTATAATATATACATTATATACACAT ACGACGTATAATATATACATTATATACACATACGACG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01993.hp2 HG02300.hp2 HG00597.hp1 HG01993.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0026 a0001c0001t0001g0112 a0001c0002t0001g0272 a0001c0001t0001g0026 a0001c0001t0001g0112 a0001c0002t0001g0272	3	182	0.0165	-186	c.249 others(19): Show c.2498+2912_2498+3097del		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
MYO1F_chr19_8515778_8582442	8543654	CTGGTGGT others(179): Show CTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGCTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGCTGGTGGTGG TGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGCTG GTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02809.hp2 HG02055.hp1 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0007 a0001c0002t0005 a0001c0002t0007	a0001c0002t0005g0254 a0001c0002t0007g0340 a0001c0002t0005g0254 a0001c0002t0007g0340	2	335	0.0060	-186	c.152 others(17): Show c.1524+457_1524+642del		MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27						chr19	TogoVar
MYO1F_chr19_8515778_8582442	8543690	GTGGTGGT others(179): Show GTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGT GGTGCTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGCTGG TGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0332 a0001c0002t0005g0332	1	325	0.0031	-186	c.152 others(17): Show c.1524+421_1524+606del		MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27						chr19	TogoVar
MYZAP_chr15_57586904_57690364	57688205	TATATGTG others(179): Show TATATGTGTGTACAATATACACATATATATGTGTGTACAATATACACATA TATTATGTGTGTACAATATACACATATATTATGTGTGTACAATATACACA TATATAATATGTGTGTACAATATACACATATATATAATATGTGTGTACAA TATACACATATATATAATATGTGTGTACAATATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0324 a0001c0001t0002g0324	1	324	0.0031	-186	c.37 others(11): Show c.3708_*3893del		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding					2842		chr15	TogoVar
NALF1_chr13_107158510_107872496	107494033	GATTTCAG others(179): Show GATTTCAGTACACTAAAATTTATTTCTACTTCATAAATGTGGTTCTGAAA ATTGATATGATTTGAGACTCAATTGTTAGAACTACTGATAAAAACAGAAG ATTGTGACATATAATAAAAATATTCATACAGGACCAACACTTGTCTTCTT GCCATGCTGAAACCGGTAGGCGAAAATTACCAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp1 HG01884.hp2 others(10): Show HG01081.hp2 HG01109.hp1 HG01884.hp2 HG01943.hp2 HG02615.hp1 HG02717.hp2 HG02809.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03453.hp1 HG03486.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0001t0031 a0001c0001t0059 others(10): Show a0001c0001t0013 a0001c0001t0031 a0001c0001t0059 a0001c0001t0063 a0001c0001t0066 a0001c0001t0087 a0001c0001t0088 a0001c0001t0096 a0001c0002t0001 a0001c0002t0017 a0001c0002t0038 a0001c0002t0050 a0001c0002t0051	a0001c0001t0013g0068 a0001c0001t0031g0017 a0001c0001t0059g0036 others(10): Show a0001c0001t0013g0068 a0001c0001t0031g0017 a0001c0001t0059g0036 a0001c0001t0063g0034 a0001c0001t0066g0028 a0001c0001t0087g0105 a0001c0001t0088g0090 a0001c0001t0096g0128 a0001c0002t0001g0084 a0001c0002t0017g0002 a0001c0002t0038g0071 a0001c0002t0050g0080 a0001c0002t0051g0072	13	128	0.1016	-186	c.916 others(21): Show c.916-283464_916-283279del		NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2						chr13	TogoVar
NDC80_chr18_2566557_2621635	2614471	GAAAGAAA others(179): Show GAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(212): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18953.hp2 NA18955.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18983.hp2 NA18985.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19003.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19059.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0001 a0002c0002t0001 a0005c0006t0001 a0001c0001t0001 a0002c0002t0001 a0005c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(196): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0253 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0290 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0085 a0002c0002t0001g0306 a0002c0002t0001g0324 a0002c0002t0001g0325 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0340 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0343 a0002c0002t0001g0344 a0002c0002t0001g0345 a0002c0002t0001g0346 a0002c0002t0001g0347 a0002c0002t0001g0349 a0002c0002t0001g0350 a0002c0002t0001g0351 a0002c0002t0001g0352 a0002c0002t0001g0354 a0002c0002t0001g0355 a0002c0002t0001g0356 a0002c0002t0001g0357 a0002c0002t0001g0358 a0002c0002t0001g0359 a0002c0002t0001g0360 a0002c0002t0001g0361 a0002c0002t0001g0362 a0002c0002t0001g0363 a0002c0002t0001g0364 a0002c0002t0001g0365 a0002c0002t0001g0366 a0002c0002t0001g0367 a0002c0002t0001g0368 a0002c0002t0001g0369 a0002c0002t0001g0370 a0005c0006t0001g0353	215	400	0.5375	-186	c.179 others(19): Show c.1792-1962_1792-1777del		NDC80	ENSG00000080986.13	transcript	ENST00000261597.9	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr18	TogoVar
NOL10_chr2_10565754_10694975	10587074	TATACATA others(179): Show TATACATATATATACATATATATACACATATATATACATATATATACATA TATATACATATATACACATATATATACATATATACACATATATACACATA TATATACACATATATATACACATATATATACACATATATATATACATATA TATACATATATATATACATACATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03195.hp1 HG03688.hp2 HG01109.hp1 HG03195.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009	3	365	0.0082	-186	c.184 others(19): Show c.1844+1783_1844+1968del		NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20						chr2	TogoVar
OPCML_chr11_132409981_133537501	133055283	ACCTCTAT others(179): Show ACCTCTATCATACAATGCAGCCTCCATGATACTTCCAAGTAGTGAGACTC CATGAGGGAGCCACCTCTACTGTACAATGCTGCCTCCATGATACTTCCAA GTGGTGAGACCCCATGAGGGAGACGCCTCTACCGTATAATGCTGCCTCTA TGATACTTCCAAGTGGTGAGACTTCATGAGGGAGCCG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0029 a0001c0001t0007g0029	1	68	0.0147	-186	c.62- others(19): Show c.62-112459_62-112274del		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OR1N1_chr9_122521358_122532293	122532017	GGGGGCCT others(179): Show GGGGGCCTGAATAATCCCTGGGAAGTAGTAGAATAGCAAATTTGCCAGTC CTGGGTGGGAGCAAATCCCTGAGCTTGATGTGTAGGGAAGGCAGGGGGCC TGAATAATCCCTGGGAAGTAGTAGAATAGCAAATTTGCCAGTCCTGGGCG GGAGCAAATCCCTGAGCTTGATGTGTAGGGAAGGGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02895.hp1 HG02897.hp1 HG02717.hp2 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0000 a0001c0008t0001g0000	3	450	0.0067	-186	c.-49 others(11): Show c.-4910_-4725del		OR1N1	ENSG00000171505.6	transcript	ENST00000304880.2	protein_coding					4725		chr9	TogoVar
OTUD7A_chr15_31470398_31875673	31510907	TATGTATA others(179): Show TATGTATATCTATATGTAACATATATGTATATCTATATGTAACATATATG TATATCTATATGTAACATATGTATATCTATATGTAACATATGTATATCTA TATGTAACATACATGTATATCTATATGTAACATACATGTATATCTATATG TAACATACATATATATGTATATCTATATGTAACATAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0049 a0001c0006t0049	a0001c0006t0049g0211 a0001c0006t0049g0211	1	242	0.0041	-186	c.894 others(17): Show c.894-7275_894-7090del		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
PARD3B_chr2_204540475_205625162	204648652	AATATATT others(179): Show AATATATTTATAATATATATCATATAAATAATATATATTTATAATATATA TCATATAAATAATATATATTTATAATAGATATCATATAAATAATATATAT TTATAATAGATATCATATAAATAATATATATTTATAATAGATATCATATA AATAATATATATTTATAATAGATATCATATAAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02965.hp1 HG01109.hp2 HG02965.hp1	a0005 a0011 a0005 a0011	a0005c0013 a0011c0027 a0005c0013 a0011c0027	a0005c0013t0001 a0011c0027t0015 a0005c0013t0001 a0011c0027t0015	a0005c0013t0001g0001 a0011c0027t0015g0003 a0005c0013t0001g0001 a0011c0027t0015g0003	2	24	0.0833	-186	c.121 others(19): Show c.121-37452_121-37267del		PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
PDGFC_chr4_156755454_156976799	156759646	AACCAAAC others(179): Show AACCAAACCACGTTCAATGCGCCTGGAGACAGGGATGCACCGAGGGTAAC CAAACCACGGTCAATGCACCTGGAGACAGGGATACACCGAGGGTAACCAA ACCATAGTCAATGCACCTGGAGACAGGGATGCACCGAGGGTAACCAAACC ATGGTCAATGCACCTGGAGACAGGGATGCACCGAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01099.hp2 HG00741.hp1 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0053 a0001c0001t0014g0054 a0001c0001t0014g0053 a0001c0001t0014g0054	2	206	0.0097	-186	c.32 others(11): Show c.3258_*3443del		PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding					807		chr4	TogoVar
PEX5_chr12_7184686_7216459	7196786	GTAATAAT others(179): Show GTAATAATTATATATGTCACATAATGTAATAATTATATATGTCACATATA ATGTAATAATTATATATGTCACATATAATGTAATAATTATATATGTCACA TATAATGTAATAATTATATATGTCACATATAATGTAATAATTATATGTCA CATATAATGTAATAATTATATGTCACATATAATGTAA	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02074.hp2 HG06807.hp2 others(10): Show HG02056.hp2 HG02074.hp2 HG06807.hp2 NA18965.hp2 NA19003.hp1 NA19010.hp1 NA19056.hp1 NA19059.hp1 NA19063.hp1 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0010 a0002c0002t0009 others(1): Show a0001c0001t0001 a0001c0001t0010 a0002c0002t0009 a0002c0002t0014	a0001c0001t0001g0009 a0001c0001t0001g0058 a0001c0001t0001g0061 others(7): Show a0001c0001t0001g0009 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0131 a0001c0001t0010g0268 a0002c0002t0009g0304 a0002c0002t0009g0305 a0002c0002t0014g0302	13	419	0.0310	-186	c.449 others(17): Show c.449-2220_449-2035del		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PIF1_chr15_64810632_64830647	64826430	TCCTTTCC others(179): Show TCCTTTCCTTTTTCCTTCTTAGGGCTCACTCTGTCGCCCAGGCTGTAGTG GAGTGCAGTGGCACAATCTCTGCTCACTGCAACCTCTGCCGTGGCGCGAT CGTGGCTCACTGCAACCTCCGCCTCCTGGGCTCTGGTGATCCTCCCGCCT CAGCCCCCCAGGTAGCTGGAACTACAGATGCACACCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	346	0.0029	-186	c.-10 others(10): Show c.-1067_-882del		PIF1	ENSG00000140451.13	transcript	ENST00000559239.2	protein_coding					784		chr15	TogoVar
PPP6R2_chr22_50338327_50450090	50433295	CATGGATG others(179): Show CATGGATGCTGGGCAGGGGCCGGGCACTTGCCCTGGAGGTGAACCTGGAG GAGGGCTGGGGGCGCGGACGCTGGGCAGGGGCCGGGCATTTGCTCTGGAG GTGAACCTGGAGGAGGGCTGGGGGCATGGATGCTGGGCAGGGGCCGGGCA CTTGCCCTGGAGGTGAACCTGGAGGAGGGCTGGGGGT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02015.hp1 HG00558.hp2 HG02015.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0022 a0001c0001 a0012c0022	a0001c0001t0007 a0012c0022t0002 a0001c0001t0007 a0012c0022t0002	a0001c0001t0007g0108 a0012c0022t0002g0208 a0001c0001t0007g0108 a0012c0022t0002g0208	2	338	0.0059	-186	c.140 others(18): Show c.1400+967_1400+1152del		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	12/23						chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50433301	TGCTGGGC others(179): Show TGCTGGGCAGGGGCCGGGCACTTGCCCTGGAGGTGAACCTGGAGGAGGGC TGGGGGCGCGGACGCTGGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAAC CTGGAGGAGGGCTGGGGGCATGGATGCTGGGCAGGGGCCGGGCACTTGCC CTGGAGGTGAACCTGGAGGAGGGCTGGGGGTGCGGAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(143): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01168.hp2 HG01255.hp1 HG01261.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03491.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18980.hp2 NA18983.hp2 NA18990.hp2 NA18993.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19056.hp1 NA19060.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA20805.hp1 NA20805.hp2	a0001 a0005 a0006 others(5): Show a0001 a0005 a0006 a0011 a0016 a0017 a0018 a0020	a0001c0001 a0001c0003 a0001c0005 others(9): Show a0001c0001 a0001c0003 a0001c0005 a0001c0014 a0001c0021 a0005c0010 a0006c0011 a0011c0020 a0016c0025 a0017c0024 a0018c0028 a0020c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0020 a0001c0001t0023 a0001c0001t0033 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0006 a0001c0003t0008 a0001c0003t0014 a0001c0003t0028 a0001c0003t0029 a0001c0003t0030 a0001c0003t0031 a0001c0005t0002 a0001c0014t0001 a0001c0021t0001 a0005c0010t0001 a0006c0011t0008 a0011c0020t0002 a0016c0025t0006 a0017c0024t0007 a0018c0028t0002 a0020c0023t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(143): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0304 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0001g0339 a0001c0001t0002g0078 a0001c0001t0002g0133 a0001c0001t0002g0144 a0001c0001t0006g0001 a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0016 a0001c0001t0006g0017 a0001c0001t0006g0018 a0001c0001t0006g0019 a0001c0001t0006g0020 a0001c0001t0006g0021 a0001c0001t0006g0024 a0001c0001t0006g0029 a0001c0001t0006g0204 a0001c0001t0007g0025 a0001c0001t0007g0080 a0001c0001t0007g0088 a0001c0001t0007g0096 a0001c0001t0007g0101 a0001c0001t0007g0146 a0001c0001t0007g0200 a0001c0001t0007g0207 a0001c0001t0009g0242 a0001c0001t0009g0253 a0001c0001t0009g0264 a0001c0001t0010g0009 a0001c0001t0010g0010 a0001c0001t0020g0237 a0001c0001t0023g0317 a0001c0001t0033g0023 a0001c0003t0001g0316 a0001c0003t0001g0319 a0001c0003t0002g0037 a0001c0003t0002g0055 a0001c0003t0002g0056 a0001c0003t0002g0073 a0001c0003t0002g0074 a0001c0003t0002g0077 a0001c0003t0002g0095 a0001c0003t0002g0104 a0001c0003t0002g0110 a0001c0003t0002g0111 a0001c0003t0002g0112 a0001c0003t0002g0114 a0001c0003t0002g0115 a0001c0003t0002g0143 a0001c0003t0002g0147 a0001c0003t0002g0189 a0001c0003t0002g0190 a0001c0003t0002g0191 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0195 a0001c0003t0002g0196 a0001c0003t0002g0197 a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0002g0205 a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0004g0091 a0001c0003t0006g0140 a0001c0003t0006g0145 a0001c0003t0006g0148 a0001c0003t0006g0206 a0001c0003t0006g0218 a0001c0003t0008g0247 a0001c0003t0014g0004 a0001c0003t0014g0006 a0001c0003t0014g0007 a0001c0003t0028g0075 a0001c0003t0029g0142 a0001c0003t0030g0211 a0001c0003t0031g0113 a0001c0005t0002g0048 a0001c0005t0002g0057 a0001c0005t0002g0086 a0001c0005t0002g0102 a0001c0005t0002g0103 a0001c0005t0002g0107 a0001c0005t0002g0116 a0001c0005t0002g0117 a0001c0005t0002g0118 a0001c0005t0002g0194 a0001c0005t0002g0203 a0001c0005t0002g0219 a0001c0005t0002g0220 a0001c0005t0002g0225 a0001c0014t0001g0230 a0001c0014t0001g0320 a0001c0021t0001g0272 a0005c0010t0001g0238 a0005c0010t0001g0250 a0005c0010t0001g0258 a0005c0010t0001g0268 a0006c0011t0008g0310 a0006c0011t0008g0311 a0006c0011t0008g0312 a0006c0011t0008g0313 a0011c0020t0002g0067 a0016c0025t0006g0030 a0017c0024t0007g0031 a0018c0028t0002g0090 a0020c0023t0001g0340	146	335	0.4358	-186	c.140 others(18): Show c.1400+992_1400+1177del		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	12/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50433822	CCTGGAGG others(179): Show CCTGGAGGTGAACCTGGAGGAGGGCCGGGGGCATGGATGCTGGGCAGGGG CCGGGCATTTGCTCTGGAGGTGAACCTGGAGGAGGGCCGGGGGCGCAGAC GCTGGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAACCTGGAGGAGGGCC GGGGGCATGGATGCTGGGCAGGGGCCGGGCATTTGCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0009 a0009	a0009c0030 a0009c0030	a0009c0030t0022 a0009c0030t0022	a0009c0030t0022g0038 a0009c0030t0022g0038	1	335	0.0030	-186	c.140 others(18): Show c.1401-1112_1401-927del		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	12/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50434033	CGGGGGCG others(179): Show CGGGGGCGCGGACGCTGGGCAGGGGCCGGGCATTTGCCCTGGAGGTGAAC CTGGAGGAGGGCCGGGGGCATGGATGCTGGGCAGGGGCCGGGCATTTGCT CTGGAGGTGAACCTGGAGGAGGGCCGGGGGCGCAGACGCTGGGCAGGGGC TGGGCATTTGCTCTGGAGGTGAACCTGGAGGAGGGCT	C C	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	338	0.0030	-186	c.140 others(17): Show c.1401-926_1401-741del		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	12/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50434065	TTTGCCCT others(179): Show TTTGCCCTGGAGGTGAACCTGGAGGAGGGCCGGGGGCATGGATGCTGGGC AGGGGCCGGGCATTTGCTCTGGAGGTGAACCTGGAGGAGGGCCGGGGGCG CAGACGCTGGGCAGGGGCTGGGCATTTGCTCTGGAGGTGAACCTGGAGGA GGGCTGGGGGCATGGATGCTGGGCAGGGGCCGGGCAC	T T	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03669.hp1 NA19086.hp1 HG02015.hp1 HG03669.hp1 NA19086.hp1	a0001 a0012 a0001 a0012	a0001c0003 a0012c0022 a0001c0003 a0012c0022	a0001c0003t0002 a0001c0003t0004 a0012c0022t0002 a0001c0003t0002 a0001c0003t0004 a0012c0022t0002	a0001c0003t0002g0191 a0001c0003t0004g0091 a0012c0022t0002g0208 a0001c0003t0002g0191 a0001c0003t0004g0091 a0012c0022t0002g0208	3	338	0.0089	-186	c.140 others(17): Show c.1401-802_1401-617del		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	12/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
PRAG1_chr8_8312736_8391439	8336668	AGGTTTTC others(179): Show AGGTTTTCCTTATACAACTAAAACCTCCCCCCACCCATAAAACGCAAATC ATTAACTTCAGCCATTGACTCTGATAAAAGTATAAAAAGGTGAAATTAAC ATTGACACAAAAGTGGCATTTTGCCACTGAAACATTTAGAATAAACACCT GTTTTAAAAATGTAACAAAGTTAGAGATTTCTATTAG	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0235 a0002c0002t0001g0258 a0002c0002t0001g0235 a0002c0002t0001g0258	2	334	0.0060	-186	c.232 others(19): Show c.2320+2624_2320+2809del		PRAG1	ENSG00000275342.6	transcript	ENST00000615670.5	protein_coding	4/5						chr8	TogoVar
PRB2_chr12_11386540_11400567	11393003	CACTTCGG others(179): Show CACTTCGGGACTTGCTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCT GGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTG TGGCTTTCCTGGAGGAGGTGGGGGACCTTGAGGCTGGTTGCCTCCTTGTG GGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGAGA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01884.hp2 HG03139.hp2 NA21309.hp2 HG01884.hp2 HG03139.hp2 NA21309.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0017 a0007c0008t0001g0017	3	408	0.0074	-186	c.889 others(8): Show c.889_1074del	p.Ser others(13): Show p.Ser297_Ser358del	PRB2	ENSG00000121335.12	transcript	ENST00000389362.6	protein_coding	3/4	1112/1431	889/1251	297/416			chr12	TogoVar
PRB2_chr12_11386540_11400567	11393206	CCTCCTTG others(179): Show CCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTG AGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAG GTGGGGGACCTTGGGGCTGGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGC TTTCCTGGAGGAGATCGGGCACTTTGGGACTTGTTGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18990.hp1 NA19056.hp1 NA18990.hp1 NA19056.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0028 a0009c0011t0001g0028	2	397	0.0050	-186	c.686 others(7): Show c.686_871del	p.Asp others(13): Show p.Asp229_Gly290del	PRB2	ENSG00000121335.12	transcript	ENST00000389362.6	protein_coding	3/4	909/1431	686/1251	229/416			chr12	TogoVar
PRDM15_chr21_41793225_41884344	41806060	TCACCATC others(179): Show TCACCATCACCACCACCATCACCACCACCACCATCACCACCACCATCACC ACCACCACCACCACCATCACCACCACCATCACCACCACCACCACCATCAC CATCACCACCACCATCACCACCACCACCATCACCACCACCACCATCACCA TCACCATCACCATCACCACCATCACTACCACCATCAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0055 a0001c0055	a0001c0055t0005 a0001c0055t0005	a0001c0055t0005g0126 a0001c0055t0005g0126	1	362	0.0028	-186	c.265 others(19): Show c.2653-1632_2653-1447del		PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23						chr21	TogoVar
PVALB_chr22_36795703_36822035	36800143	TCATCTAC others(179): Show TCATCTACCCACCCATCCATCCATCCATTCATCCACCATCCATCCATCCC CCCACCCATCCACCCATTCATCCATCGTCCATTCACCCACCCATCCATCC ATTTACCCATCTGCCCACCCATCTACTCACCCATCCATCTATCCATCTAT CCACCCACCCATCCACCCACCCATTCATCCACCCACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 NA21309.hp1 HG02145.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0041 a0001c0001t0002g0091 a0001c0001t0001g0041 a0001c0001t0002g0091	2	420	0.0048	-186	c.56 others(9): Show c.561_*746del		PVALB	ENSG00000100362.13	transcript	ENST00000417718.7	protein_coding					559		chr22	TogoVar
PXMP2_chr12_132682587_132709985	132693138	CAGTTAGT others(179): Show CAGTTAGTGAGCTCCCTTAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTT AGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTG AGCTCCCTTGCCAGTTAGTGAGTGCCCTTGCCAGTTAGTTAAGTGAGCGC CCTTAGCCAGTTAGATAGTGAGCGCCCTTAGCCAGTT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0044 a0001c0004t0002g0044	1	344	0.0029	-186	c.237 others(17): Show c.237-2734_237-2549del		PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB11FIP3_chr16_420649_528011	481537	AGCAAGCT others(179): Show AGCAAGCTCCTCCGTCAGTCTCTTGAGTAGCTGGGACCTACAGGCAGGTG CCACCACACCTGGGCAAGCTCCTCCGTCAGTCTCTTGAGTAGCTGGGACC TACAGGCAGGTGCCACCACACCTGGGCAAGCTCCTCCGTCAGTCTCTTGA GTAGCTGGGACCTACAGGCAGGTGCCACCACACCTGG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02027.hp1 NA18973.hp2 others(1): Show HG01346.hp2 HG02027.hp1 NA18973.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0247 a0001c0001t0006g0196 a0001c0001t0006g0246 others(1): Show a0001c0001t0001g0247 a0001c0001t0006g0196 a0001c0001t0006g0246 a0001c0001t0006g0248	4	293	0.0137	-186	c.904 others(15): Show c.904-825_904-640del		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RASA3_chr13_113972783_114137623	114006981	GCCACCTT others(179): Show GCCACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACACCACCTTACCCTT CTCCCCACTCCTGCCCTGCCGGACACCACCTTACCCTTCTCCCCACTCCT GCCCTGCCGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACAC CACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGACA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0053 a0003c0006t0002g0053	1	61	0.0164	-186	c.174 others(17): Show c.1742+366_1742+551del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23						chr13	TogoVar
RBM10_chrX_47140221_47191813	47148585	TATGTATC others(179): Show TATGTATCCTTCTATGATACATATCATAGAAAATGTATCCTTCTATGATA CATATCATAGAAAATGTATCCTTCTATGATACATATCATAGAAAATGTAT CCTTCTATGATACATATCATAGAAAATGTATCCTTCTATGATACATATCA TAGAAAATGTATCCTTCTATGATACATATCATAGAAA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	77	0.0130	-186	c.17+ others(15): Show c.17+1281_17+1466del		RBM10	ENSG00000182872.16	transcript	ENST00000377604.8	protein_coding	2/23					INFO_REALIGN_3_PRIME	chrX	TogoVar
RIMBP2_chr12_130391133_130721299	130482867	TTGTGTGT others(179): Show TTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGGGCACACCTCATC CAAATACACCCATTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGG GCAGACCTCATCCAATTACACCCATTGTGTGTGTACATGTGTCAGATTCT GCAGGGGAGGGGGCAGACCTCATCCAAATACACCCAC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0118 a0001c0020t0001g0118	1	121	0.0083	-186	c.-3- others(15): Show c.-3-4037_-3-3852del		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	4/22						chr12	TogoVar
RIPK1_chr6_3063494_3120187	3090826	ACCTACCT others(179): Show ACCTACCTGCCGCACCTAGTAACCGCAGAGTACCTACCTGCCGCACCTAG TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGC AGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0134	1	311	0.0032	-186	c.915 others(17): Show c.915+1197_915+1382del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091074	GCCTACCT others(179): Show GCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAG TAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGC AGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGTA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02165.hp1 HG02622.hp2 others(7): Show HG02055.hp1 HG02165.hp1 HG02622.hp2 HG03130.hp1 HG03492.hp1 HG03516.hp2 NA18945.hp1 NA18960.hp1 NA19010.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0002t0008 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0151 a0001c0001t0001g0180 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0151 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0269 a0001c0001t0001g0313 a0001c0001t0008g0263 a0001c0002t0001g0209 a0001c0002t0008g0238 a0001c0003t0001g0202	10	335	0.0299	-186	c.915 others(17): Show c.915+1445_915+1630del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091660	CGCGCCTA others(179): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGA	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	190	0.0053	-186	c.915 others(17): Show c.915+2003_915+2188del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10						chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091815	CGCGCCTA others(179): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01169.hp1 HG01515.hp1 others(11): Show HG01106.hp1 HG01169.hp1 HG01515.hp1 HG02293.hp1 HG02300.hp2 HG02559.hp2 HG03130.hp1 NA18747.hp1 NA18960.hp1 NA18991.hp1 NA19009.hp1 NA19011.hp1 NA19081.hp1 NA19086.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 a0001c0001 a0001c0002 a0003c0007	a0001c0001t0001 a0001c0001t0008 a0001c0001t0018 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0018 a0001c0002t0001 a0003c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0187 a0001c0001t0001g0223 a0001c0001t0001g0282 a0001c0001t0001g0305 a0001c0001t0001g0318 a0001c0001t0008g0263 a0001c0001t0008g0311 a0001c0001t0018g0288 a0001c0002t0001g0255 a0003c0007t0001g0296	14	290	0.0483	-186	c.915 others(17): Show c.915+2282_915+2467del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092001	AGCGCCTA others(179): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18955.hp2 HG02735.hp1 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0271 a0001c0002t0002g0046 a0001c0002t0002g0271	2	265	0.0075	-186	c.915 others(17): Show c.915+2395_915+2580del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092488	GAACCGCA others(179): Show GAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACC TGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGC AGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGT	G G	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	331	0.0030	-186	c.915 others(17): Show c.915+2840_915+3025del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092581	GAACCGCA others(179): Show GAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGC AGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCA CCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGT	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02970.hp1 NA18971.hp2 others(4): Show HG01515.hp2 HG02970.hp1 NA18971.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0054 a0001c0001t0001g0092 a0001c0001t0001g0107 others(4): Show a0001c0001t0001g0054 a0001c0001t0001g0092 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0164 a0001c0002t0001g0134	7	232	0.0302	-186	c.915 others(17): Show c.915+2933_915+3118del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093170	TAACCGCA others(179): Show TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACC TGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGC AGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCA CCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGG	T T	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0302 a0001c0001t0017g0302	1	244	0.0041	-186	c.915 others(17): Show c.915+3522_915+3707del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093179	CGCGCCTA others(179): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TCGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCT ACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03669.hp1 HG03927.hp2 others(1): Show HG02258.hp2 HG03669.hp1 HG03927.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 a0001c0001t0001 a0001c0001t0010 a0001c0002t0001	a0001c0001t0001g0014 a0001c0001t0001g0159 a0001c0001t0010g0276 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0159 a0001c0001t0010g0276 a0001c0002t0001g0119	4	320	0.0125	-186	c.915 others(17): Show c.915+3573_915+3758del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093582	AGCGCCTA others(179): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	137	0.0073	-186	c.915 others(17): Show c.915+4137_915+4322del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
RNF213_chr17_80255852_80403794	80260541	CCGGCGGC others(179): Show CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGG CAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGG CGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGG CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0063 a0063	a0063c0145 a0063c0145	a0063c0145t0029 a0063c0145t0029	a0063c0145t0029g0174 a0063c0145t0029g0174	1	39	0.0256	-186	c.-46 others(9): Show c.-469_-284del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding					310		chr17	TogoVar
RNF213_chr17_80255852_80403794	80260571	CCGGCGGC others(179): Show CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGG CAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGG CGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGG CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG00738.hp1 others(22): Show HG00280.hp2 HG00609.hp1 HG00738.hp1 HG01167.hp2 HG01169.hp1 HG01358.hp1 HG02004.hp1 HG02015.hp2 HG02109.hp1 HG02451.hp1 HG02486.hp2 HG02615.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG03710.hp2 HG04199.hp1 HG04199.hp2 NA18906.hp1 NA18942.hp2 NA18952.hp2 NA19005.hp2 NA19030.hp1 NA20129.hp2	a0001 a0002 a0007 others(10): Show a0001 a0002 a0007 a0014 a0019 a0020 a0022 a0029 a0030 a0055 a0064 a0091 a0096	a0001c0001 a0001c0004 a0002c0002 others(12): Show a0001c0001 a0001c0004 a0002c0002 a0002c0035 a0007c0008 a0014c0017 a0019c0090 a0020c0026 a0022c0022 a0029c0032 a0030c0031 a0055c0083 a0064c0144 a0091c0043 a0096c0097	a0001c0001t0001 a0001c0004t0002 a0002c0002t0002 others(13): Show a0001c0001t0001 a0001c0004t0002 a0002c0002t0002 a0002c0002t0004 a0002c0035t0002 a0007c0008t0004 a0014c0017t0003 a0019c0090t0004 a0020c0026t0006 a0022c0022t0003 a0029c0032t0015 a0030c0031t0003 a0055c0083t0024 a0064c0144t0002 a0091c0043t0002 a0096c0097t0021	a0001c0001t0001g0115 a0001c0001t0001g0132 a0001c0001t0001g0157 others(22): Show a0001c0001t0001g0115 a0001c0001t0001g0132 a0001c0001t0001g0157 a0001c0004t0002g0156 a0002c0002t0002g0117 a0002c0002t0002g0127 a0002c0002t0002g0143 a0002c0002t0002g0155 a0002c0002t0004g0114 a0002c0035t0002g0094 a0007c0008t0004g0078 a0014c0017t0003g0089 a0014c0017t0003g0090 a0014c0017t0003g0097 a0019c0090t0004g0092 a0020c0026t0006g0138 a0022c0022t0003g0169 a0022c0022t0003g0170 a0029c0032t0015g0022 a0030c0031t0003g0019 a0030c0031t0003g0026 a0055c0083t0024g0116 a0064c0144t0002g0173 a0091c0043t0002g0055 a0096c0097t0021g0027	25	125	0.2000	-186	c.-43 others(9): Show c.-439_-254del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding					280		chr17	TogoVar
RNF213_chr17_80255852_80403794	80260601	CCGGCGGC others(179): Show CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGG CAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGG CGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGG CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02083.hp2 NA18947.hp2 others(2): Show HG02071.hp1 HG02083.hp2 NA18947.hp2 NA18963.hp1 NA19004.hp1	a0001 a0006 a0031 others(1): Show a0001 a0006 a0031 a0054	a0001c0001 a0006c0009 a0031c0025 others(1): Show a0001c0001 a0006c0009 a0031c0025 a0054c0081	a0001c0001t0001 a0006c0009t0005 a0031c0025t0011 others(2): Show a0001c0001t0001 a0006c0009t0005 a0031c0025t0011 a0031c0025t0058 a0054c0081t0001	a0001c0001t0001g0257 a0006c0009t0005g0273 a0031c0025t0011g0256 others(2): Show a0001c0001t0001g0257 a0006c0009t0005g0273 a0031c0025t0011g0256 a0031c0025t0058g0258 a0054c0081t0001g0267	5	207	0.0242	-186	c.-40 others(9): Show c.-409_-224del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding					250		chr17	TogoVar
RNF213_chr17_80255852_80403794	80260631	CCGGCGGC others(179): Show CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGG CAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGG CGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGG CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG01071.hp1 others(15): Show HG00558.hp2 HG00597.hp2 HG01071.hp1 HG01346.hp2 HG02055.hp1 HG02145.hp1 HG02280.hp1 HG02559.hp1 HG03516.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp2 HG04204.hp2 NA18945.hp2 NA18973.hp2 NA18980.hp2 NA19065.hp2 NA19087.hp2	a0001 a0002 a0007 others(5): Show a0001 a0002 a0007 a0010 a0013 a0024 a0059 a0083	a0001c0001 a0001c0003 a0001c0124 others(10): Show a0001c0001 a0001c0003 a0001c0124 a0002c0002 a0002c0010 a0002c0027 a0002c0035 a0007c0008 a0010c0016 a0013c0020 a0024c0023 a0059c0131 a0083c0057	a0001c0001t0001 a0001c0001t0059 a0001c0003t0001 others(11): Show a0001c0001t0001 a0001c0001t0059 a0001c0003t0001 a0001c0124t0001 a0002c0002t0039 a0002c0010t0002 a0002c0027t0001 a0002c0035t0002 a0007c0008t0004 a0010c0016t0020 a0013c0020t0002 a0024c0023t0003 a0059c0131t0003 a0083c0057t0002	a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0223 others(15): Show a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0223 a0001c0001t0001g0288 a0001c0001t0059g0286 a0001c0003t0001g0140 a0001c0003t0001g0255 a0001c0124t0001g0065 a0002c0002t0039g0254 a0002c0010t0002g0187 a0002c0027t0001g0102 a0002c0035t0002g0093 a0007c0008t0004g0287 a0010c0016t0020g0098 a0013c0020t0002g0002 a0024c0023t0003g0248 a0059c0131t0003g0010 a0083c0057t0002g0091	18	214	0.0841	-186	c.-37 others(9): Show c.-379_-194del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding					220		chr17	TogoVar
RPH3AL_chr17_207389_357807	334696	AGGACAGG others(179): Show AGGACAGGGACAAGGCAACCACCCCCAGCAAGTGCGGCTCCTTCTCCCCA CGCCTTCCCCCAGGGCCAGCCCATCCACTGTGGAGGGACAGGGACAAGGA CAGGGACAAGGCAACCACCCCCAGCAAGTGCGGCTCCTTCTCCCCACGCC TTCCCCCAGGGCCAGCCCATCCACTGCGGAGGGACAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01943.hp1 HG01978.hp2 others(10): Show HG00408.hp1 HG01943.hp1 HG01978.hp2 HG02027.hp1 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG04184.hp1 NA18947.hp2 NA19003.hp1 NA19003.hp2 NA19079.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0002t0001	a0001c0001t0001g0110 a0001c0001t0002g0010 a0001c0001t0002g0051 others(10): Show a0001c0001t0001g0110 a0001c0001t0002g0010 a0001c0001t0002g0051 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0003g0034 a0001c0001t0003g0052 a0001c0001t0004g0008 a0001c0001t0004g0039 a0001c0001t0008g0042 a0001c0001t0011g0003 a0001c0001t0011g0056 a0001c0002t0001g0057	13	132	0.0985	-186	c.-21 others(17): Show c.-212-948_-212-763del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9						chr17	TogoVar
SCN11A_chr3_38840764_39056944	38877020	TGTATATA others(179): Show TGTATATATATGGTATATATATGGTGTATATACTATATATATGGTATATA TATGGTGTATATACTATATATATGGTATATATATGGTGTATATACTATAT ATATGGTGTATATACTATATATATGGTATATATATGGTGTATATACTATA TATATGGTATATATATGGTGTATATACTATATATATG	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02630.hp2 HG02486.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0272 a0001c0001t0003g0284 a0001c0001t0003g0272 a0001c0001t0003g0284	2	298	0.0067	-186	c.339 others(19): Show c.3393+2744_3393+2929del		SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29						chr3	TogoVar
SCN11A_chr3_38840764_39056944	38877052	CTATATAT others(179): Show CTATATATATGGTATATATATGGTGTATATACTATATATATGGTATATAT ATGGTGTATATACTATATATATGGTGTATATACTATATATATGGTATATA TATGGTGTATATACTATATATATGGTATATATATGGTGTATATACTATAT ATATGGTATATATATGGTGTATATACTATATATATGG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0297 a0001c0006t0003g0297	1	256	0.0039	-186	c.339 others(19): Show c.3393+2712_3393+2897del		SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29						chr3	TogoVar
SCNN1D_chr1_1275436_1297025	1288775	CCGTGTCT others(179): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	285	0.0035	-186	c.166 others(17): Show c.1662+740_1662+925del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289617	CCGTGTCT others(179): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18998.hp2 NA19067.hp2 others(1): Show NA18964.hp2 NA18998.hp2 NA19067.hp2 NA19077.hp1	a0003 a0029 a0003 a0029	a0003c0004 a0029c0040 a0003c0004 a0029c0040	a0003c0004t0003 a0029c0040t0012 a0003c0004t0003 a0029c0040t0012	a0003c0004t0003g0133 a0003c0004t0003g0135 a0003c0004t0003g0153 others(1): Show a0003c0004t0003g0133 a0003c0004t0003g0135 a0003c0004t0003g0153 a0029c0040t0012g0132	4	286	0.0140	-186	c.166 others(17): Show c.1663-652_1663-467del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43280983	TCCTCAGT others(179): Show TCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCC TCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGC CACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCAC CCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTC	T T	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18943.hp2 NA18954.hp1 others(4): Show NA18747.hp2 NA18943.hp2 NA18954.hp1 NA18962.hp2 NA19003.hp2 NA19066.hp1 NA19087.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0001 a0003c0007 a0002c0002 a0003c0001 a0003c0007	a0002c0002t0001 a0002c0002t0055 a0003c0001t0001 others(2): Show a0002c0002t0001 a0002c0002t0055 a0003c0001t0001 a0003c0001t0050 a0003c0007t0001	a0002c0002t0001g0120 a0002c0002t0055g0170 a0003c0001t0001g0191 others(4): Show a0002c0002t0001g0120 a0002c0002t0055g0170 a0003c0001t0001g0191 a0003c0001t0001g0201 a0003c0001t0001g0210 a0003c0001t0050g0202 a0003c0007t0001g0099	7	220	0.0318	-186	c.484 others(18): Show c.484+9877_484+10062del		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar

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